G145S (p.Gly145Ser) variant of PROC (Vitamin K-dependent protein C)
G145S (p.Gly145Ser) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Thrombophilia due to protein C deficiency, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
G145S (p.Gly145Ser) variant details
- p.Gly145Ser
- rs370813536
- ClinGen CA1859350
- ClinVar RCV001801313
- ESP rs370813536
- Likely pathogenic
- Thrombophilia due to protein C deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.77
- CADD 28.70
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Thrombophilia due to protein C deficiency, autosomal dominant)
- EBI: Likely pathogenic (in THPH3)
- UniProt: Likely pathogenic (in THPH3)
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available